Mutagenetix > Incidental Mutation

Incidental Mutation 'R6286:Zfp46'

508224

Institutional Source

Beutler Lab

Gene Symbol

Zfp46

Ensembl Gene

ENSMUSG00000051351

Gene Name

zinc finger protein 46

Synonyms

Zfp-46

MMRRC Submission

044456-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.130) question?

Stock #

R6286 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

136011994-136021253 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 136018320 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 385 (S385P)

Ref Sequence

ENSEMBL: ENSMUSP00000070216 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000069195] [ENSMUST00000130223] [ENSMUST00000130658] [ENSMUST00000144217]

AlphaFold

Q8BPP0

Predicted Effect

probably damaging
Transcript: ENSMUST00000069195
AA Change: S385P

PolyPhen 2 Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000070216
Gene: ENSMUSG00000051351
AA Change: S385P

Domain	Start	End	E-Value	Type
KRAB	1	57	6.97e-14	SMART
ZnF_C2H2	120	142	3.21e-4	SMART
ZnF_C2H2	148	170	2.95e-3	SMART
ZnF_C2H2	176	198	1.95e-3	SMART
ZnF_C2H2	204	226	4.47e-3	SMART
ZnF_C2H2	232	254	1.22e-4	SMART
ZnF_C2H2	260	282	2.43e-4	SMART
ZnF_C2H2	288	310	6.42e-4	SMART
ZnF_C2H2	316	338	4.47e-3	SMART
ZnF_C2H2	344	366	5.59e-4	SMART
ZnF_C2H2	372	394	1.12e-3	SMART
ZnF_C2H2	400	422	1.38e-3	SMART
ZnF_C2H2	428	450	7.49e-5	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000130223

SMART Domains

Protein: ENSMUSP00000115774
Gene: ENSMUSG00000051351

Domain	Start	End	E-Value	Type
KRAB	1	57	6.97e-14	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000130658

SMART Domains

Protein: ENSMUSP00000116237
Gene: ENSMUSG00000051351

Domain	Start	End	E-Value	Type
KRAB	1	57	6.97e-14	SMART
SCOP:d1fgja_	103	130	6e-5	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000132649

Predicted Effect

probably benign
Transcript: ENSMUST00000144217

SMART Domains

Protein: ENSMUSP00000118495
Gene: ENSMUSG00000051351

Domain	Start	End	E-Value	Type
KRAB	1	57	6.97e-14	SMART
ZnF_C2H2	120	142	3.21e-4	SMART

Meta Mutation Damage Score

0.5959

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.4%
20x: 95.7%

Validation Efficiency

98% (40/41)

Allele List at MGI

Other mutations in this stock

Total: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Alk	T	A	17: 72,187,842 (GRCm39)	M1300L	probably damaging	Het
C3	A	T	17: 57,531,118 (GRCm39)	I356N	probably damaging	Het
Cntnap5b	T	A	1: 100,182,798 (GRCm39)	S276T	possibly damaging	Het
Cts7	C	T	13: 61,500,584 (GRCm39)	G321E	probably damaging	Het
Cyp11a1	G	A	9: 57,924,701 (GRCm39)		probably benign	Het
Ddx4	T	C	13: 112,750,269 (GRCm39)	T421A	probably damaging	Het
Dnttip2	A	G	3: 122,078,049 (GRCm39)	T694A	probably damaging	Het
Eif3b	G	T	5: 140,405,566 (GRCm39)	D151Y	probably damaging	Het
Fhad1	T	A	4: 141,648,209 (GRCm39)	E219V	probably damaging	Het
Gdf2	C	T	14: 33,667,057 (GRCm39)	R260C	probably damaging	Het
Gm14295	T	C	2: 176,501,361 (GRCm39)	Y284H	possibly damaging	Het
Gm45861	A	G	8: 28,019,619 (GRCm39)	T745A	unknown	Het
Grin2a	G	A	16: 9,579,639 (GRCm39)	T208I	possibly damaging	Het
Ide	T	A	19: 37,255,409 (GRCm39)	Y798F	unknown	Het
Llgl1	G	A	11: 60,600,358 (GRCm39)	G569D	probably damaging	Het
Mrpl9	G	C	3: 94,351,097 (GRCm39)	E92D	probably benign	Het
Muc16	T	A	9: 18,555,685 (GRCm39)	H3536L	unknown	Het
Nasp	T	C	4: 116,461,985 (GRCm39)	Y526C	probably damaging	Het
Nfx1	A	G	4: 40,986,728 (GRCm39)	N404D	probably damaging	Het
Nsrp1	A	G	11: 76,940,269 (GRCm39)	I112T	probably damaging	Het
Or6c7	T	C	10: 129,323,497 (GRCm39)	L206P	probably damaging	Het
Or8b8	A	T	9: 37,809,074 (GRCm39)	I125F	probably damaging	Het
Oxsr1	A	G	9: 119,093,948 (GRCm39)	V235A	probably damaging	Het
Pamr1	C	T	2: 102,471,293 (GRCm39)	Q539*	probably null	Het
Pramel20	T	A	4: 143,297,796 (GRCm39)	V72D	probably benign	Het
Ptpn4	A	G	1: 119,649,592 (GRCm39)		probably null	Het
Ranbp2	C	T	10: 58,315,394 (GRCm39)	A2038V	probably benign	Het
Rsf1	G	GACGGCGGCA	7: 97,229,116 (GRCm39)		probably benign	Homo
Septin5	A	G	16: 18,442,127 (GRCm39)	V253A	probably damaging	Het
Skic3	T	C	13: 76,291,359 (GRCm39)	L993P	probably damaging	Het
Slc22a13	C	A	9: 119,037,778 (GRCm39)	E117*	probably null	Het
Slc9c1	T	C	16: 45,398,194 (GRCm39)	I653T	probably benign	Het
Slco6c1	T	A	1: 97,053,445 (GRCm39)	H152L	possibly damaging	Het
Sp2	A	C	11: 96,852,372 (GRCm39)	V184G	probably benign	Het
Taok1	T	A	11: 77,444,599 (GRCm39)	H492L	probably benign	Het
Tas2r110	G	A	6: 132,845,490 (GRCm39)	D174N	probably benign	Het
Trim24	G	A	6: 37,896,426 (GRCm39)		probably null	Het
Ttn	G	A	2: 76,581,321 (GRCm39)	R21445*	probably null	Het
Ttn	A	G	2: 76,605,967 (GRCm39)	Y16502H	probably damaging	Het
Vmn2r84	A	C	10: 130,226,737 (GRCm39)	M367R	possibly damaging	Het

Other mutations in Zfp46

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R1617:Zfp46	UTSW	4	136,017,823 (GRCm39)	missense	probably damaging	1.00
R4671:Zfp46	UTSW	4	136,017,484 (GRCm39)	missense	probably damaging	0.99
R4883:Zfp46	UTSW	4	136,017,792 (GRCm39)	missense	probably damaging	0.99
R5945:Zfp46	UTSW	4	136,014,528 (GRCm39)	missense	probably damaging	0.98
R6462:Zfp46	UTSW	4	136,017,924 (GRCm39)	missense	probably damaging	0.99
R8517:Zfp46	UTSW	4	136,018,458 (GRCm39)	missense	probably benign	0.07
R9295:Zfp46	UTSW	4	136,017,876 (GRCm39)	missense	probably damaging	1.00
Z1176:Zfp46	UTSW	4	136,017,447 (GRCm39)	missense	probably benign	0.04

Predicted Primers

PCR Primer
(F):5'- GGGAAAACTTCAGCCGCATC -3'
(R):5'- ACAGGGCCTAGTCGGTATGAAC -3'

Sequencing Primer
(F):5'- GCATCTCCCACCTCGTCCAG -3'
(R):5'- GCCTAGTCGGTATGAACTCTCTTG -3'

Posted On

2018-03-15